Homologous pigmentation mutations in human, mouse and other model organisms

Ian Jackson

Research output: Contribution to journalLiterature reviewpeer-review


Mouse coat colour genes have long been studied as a paradigm for genetic interactions in development. A number of these genes have been cloned and most correspond to human genetic disease loci. The proteins encoded by these genes include transcription factors, receptor tyrosine kinases and growth factors, G-protein coupled receptors and their ligands, membrane proteins, structural proteins and enzymes. Many of the mutations have pleiotropic effects, indicating that these proteins play a wider role in developmental or cellular processes. In this review I tabulate the available data on all pigmentation genes cloned from mouse or human, and I focus on three particular systems. One family of genes, including LYST and HPS/ep, shows the relationship between melanosomes and lysosomes. The G-protein coupled receptor, endothelin receptor-B, and its ligand, endothelin-3, are required for the development of both melanocytes and enteric neurons. The melanocortin-1 receptor is expressed only on melanocytes, but mutations that cause overexpression of agouti protein, an antagonist of the receptor, result in obesity, and highlight a role of melanocortins in weight homoeostasis.
Original languageEnglish
Pages (from-to)1613-24
Number of pages12
JournalHuman Molecular Genetics
Issue number10
Publication statusPublished - 1997


  • Agouti Signaling Protein
  • Amino Acid Sequence
  • Animals
  • Genetic Diseases, Inborn/genetics
  • Genetic Variation
  • Hair Color/genetics
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Melanins/genetics
  • Melanins/metabolism
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Pigmentation/genetics
  • Proteins/genetics
  • Receptors, Corticotropin/chemistry
  • Receptors, Corticotropin/genetics
  • Receptors, Melanocortin
  • Sequence Alignment


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